title: Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: a novel silent substitution interfering in Hb A1c determination.
abstract: We report a novel hemoglobin (Hb) mutation [Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G] that was identified in an individual with an inappropriately low Hb A1c value of 2.8% when using an ion exchange method. Although occurring at a well conserved site, the conservative substitution was not associated with any adverse clinical features.
authors.affiliation: Molecular Pathology Laboratory, University of Otago , Christchurch , New Zealand.
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Tim
authors.initials: T
authors.lastname: Chan
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003062:Codon; D005260:Female; D006442:Glycated Hemoglobin / Q000737:chemistry / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C000588847:hemoglobin Papanui